Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
D Gareth EvansClaire L HartleyPhilip T SmithAndrew T KingNaomi L BowersSimon TobiAndrew J WallaceMary PerryRaji AnupSimon K W LloydScott A RutherfordCharlotte Hammerbeck-WardOmar N PathmanabanEmma StapletonSimon R FreemanMark KellettDorothy HallidayAllyson ParryJuliette J GairPatrick AxonRoger LaittOwen ThomasShazia K AfridiRupert Obholzernull nullChris DuffStavros M StivarosGrace VassalloElaine F HarknessMiriam Jane SmithPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
This study has identified a very high probable mosaicism rate in de novo NF2, probably making NF2 the condition with the highest expressed rate of mosaicism in de novo dominant disease that is nonlethal in heterozygote form. Risks to offspring are small and probably correlate with variant allele frequency detected in blood.